Detalhe da pesquisa
1.
Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort.
Genet Med
; 25(2): 100317, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36459106
2.
Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea.
J Lipid Res
; 58(6): 1230-1237, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28373485
3.
Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.
J Proteome Res
; 16(10): 3787-3804, 2017 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28792770
4.
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
Biochim Biophys Acta
; 1852(10 Pt B): 2301-11, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25976102
5.
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Mol Genet Metab
; 119(1-2): 160-7, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27553878
6.
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
Am J Hum Genet
; 91(1): 202-8, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22748208
7.
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk: Laboratory Experience and Considerations.
J Mol Diagn
; 26(3): 202-212, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38171482
8.
Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress.
Angiogenesis
; 16(2): 387-404, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23143660
9.
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
BMC Med Genet
; 13: 50, 2012 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-22727047
10.
SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.
Amyotroph Lateral Scler
; 13(2): 217-22, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22292843
11.
Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.
J Med Genet
; 47(11): 786-90, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20679667
12.
Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology.
Mol Cell Proteomics
; 8(7): 1708-18, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19383612
13.
Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis.
Ann Neurol
; 62(6): 609-17, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17886298
14.
Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy.
Am J Med
; 131(2): 200.e1-200.e8, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28943383
15.
Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings.
Hum Mutat
; 28(1): 1-12, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16983642
16.
Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.
Mov Disord
; 26(11): 2140-1, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21674621
17.
Huntington Disease: Molecular Diagnostics Approach.
Curr Protoc Hum Genet
; 87: 9.26.1-9.26.23, 2015 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26439718
18.
Novel recruitment strategy to enrich for LRRK2 mutation carriers.
Mol Genet Genomic Med
; 3(5): 404-12, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26436106
19.
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.
World J Gastroenterol
; 21(3): 1001-8, 2015 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25624737
20.
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
PLoS One
; 10(5): e0127045, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25996915